Table 3.
The correlation between clinical features and IC2 LOM, IC1 GOM, and pUPD11 defects of the study cohort
| IC2 LOM (n = 10) | IC1 GOM (n = 5) | pUPD11 (n = 1) | p-Value | |
|---|---|---|---|---|
| Cardinal features | ||||
| Macroglossia | 10/10 (100.0%) | 4/5 (80.0%) | 1/1 (100%) | NS |
| Lateralized overgrowth | 1/10 (10.0%) | 3/5 (60.0%) | 0/1 (0%) | < 0.05 |
| Exomphalos | 1/10 (10.0%) | 0/5 (0%) | 0/1 (0%) | NS |
| Hyperinsulinism | 0/10 (0%) | 1/5 (20.0%) | 0/1 (0%) | NS |
| Wilms tumor or nephroblastomatosisa | 0/10 (0%) | 0/1 (0%) | 0/1 (0%) | NS |
| Suggestive features | ||||
| Umbilical hernia and/or diastasis recti | 8/10 (80.0%) | 4/5 (80.0%) | 1/1 (100%) | NS |
| Ear creases and/or pits | 5/10 (50.0%) | 2/5 (40.0%) | 0/1 (0%) | NS |
| Nephromegaly and/or hepatomegaly | 3/10 (30.0%) | 3/5 (60.0%) | 0/1 (0%) | NS |
| Facial naevus simplex | 5/10 (50.0%) | 2/5 (40.0%) | 0/1 (0%) | NS |
| Birthweight > 2 SDS above the mean | 3/10 (30.0%) | 3/5 (60.0%) | 1/1 (100%) | NS |
| Transient hypoglycaemia | 2/10 (20.0%) | 2/5 (40.0%) | 0/1 (0%) | NS |
| Polyhydramnios | 1/10 (10.0%) | 2/5 (40.0%) | 0/1 (0%) | NS |
| Typical BWS tumorsb | 0 /10 (0%) | 0/5 (0%) | 0/1 (0%) | NS |
a Multifocal and/or bilateral Wilms tumor or nephroblastomatosis
b Neuroblastoma, rhabdomyosarcoma, unilateral Wilms tumour, hepatoblastoma, adrenocortical carcinoma or phaeochromocytoma
BWS Beckwith-Wiedemann syndrome, LOM loss of methylation, GOM gain of methylation, pUPD paternal uniparental isodisomy, NS no significance